Identification of the disease gene of dyschromatosis symmetrica hereditaria.
| Project/Area Number |
11670824
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Nagoya University |
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Principal Investigator |
MORI Hijiri School of Medicine, Nagoya University, Associate Professor, 医学部, 助教授 (60260593)
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| Co-Investigator(Kenkyū-buntansha) |
IWAI Teruki Sch.of Med, Nagoya University, Researc Associate, 医学部, 助手 (10311713)
TOMITA Yasushi Sch.of Med, Nagoya University, Professor, 医学部, 教授 (70108512)
MIYAMURA Yoshinori Sch.of Med, Nagoya University, Researc Associate, 医学部, 助手 (50272034)
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| Project Period (FY) |
1999 – 2000
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| Project Status |
Completed (Fiscal Year 2000)
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| Budget Amount *help |
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 2000: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1999: ¥1,500,000 (Direct Cost: ¥1,500,000)
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| Keywords | DYSCHROMATOSIS / LINKAGE ANALYSIS / SNP / 遺伝性対側性色素異常症 / 季節変動 / 常染色体優性遺伝 |
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| Research Abstract |
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary disorder, first reported by Toyama in 1910. It is characterized by a mixture of hypopigmented and hyperpigmented macules of various sizes on the backs of the hands and feet. The cause and the pathogenesis as well as the disease gene of DSH and its chromosomal localization have not yet been clarified. Thus we made the project performing linkage analysis between the DSH gene and microsatellite markers on each chromosome in three Japanese DSH families (83 patients in total) in order to finally identify the DSH gene.
We obtained three microsatellite markers showing high log ratio of odds (LOD) score more than 5 and then narrowed the location of the candidate gene to about 3 Mb after the single nucleotide polymorphism (SNP) analysis. We now try to find any mutation (s) in several hopeful genes recognized in the 3Mb chromosomal region.
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Report
(3 results)
Research Products
(6 results)
